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MGP005697

UniProt Annotations

Entry Information
Gene Namelysine (K)-specific methyltransferase 2C
Protein EntryKMT2C_HUMAN
UniProt IDQ8NEZ4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8NEZ4-1; Sequence=Displayed; Name=2; IsoId=Q8NEZ4-2; Sequence=VSP_008561, VSP_008562, VSP_036223; Note=No experimental confirmation available.; Name=3; IsoId=Q8NEZ4-3; Sequence=VSP_008562; Note=No experimental confirmation available.;
Catalytic ActivityS-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. {ECO:0000269|PubMed:17500065}.
DomainThe SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation activity.
FunctionHistone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. {ECO:0000269|PubMed:17500065}.
InteractionQ14686:NCOA6; NbExp=5; IntAct=EBI-1042997, EBI-78670;
MiscellaneousFound in a critical region of chromosome 7, which is commonly deleted in malignant myeloid disorders. Partial duplication of the KMT2C gene are found in the juxtacentromeric region of chromosomes 1, 2, 13 and 21. Juxtacentromeric reshuffling of the KMT2C gene has generated the BAGE genes.
SimilarityBelongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. {ECO:0000255|PROSITE-ProRule:PRU00190}.
SimilarityContains 1 A.T hook DNA-binding domain. {ECO:0000305}.
SimilarityContains 1 DHHC-type zinc finger. {ECO:0000255|PROSITE-ProRule:PRU00067}.
SimilarityContains 1 FYR C-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00876}.
SimilarityContains 1 FYR N-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00875}.
SimilarityContains 1 post-SET domain. {ECO:0000255|PROSITE- ProRule:PRU00155}.
SimilarityContains 1 RING-type zinc finger. {ECO:0000255|PROSITE-ProRule:PRU00175}.
SimilarityContains 1 SET domain. {ECO:0000255|PROSITE- ProRule:PRU00190}.
SimilarityContains 6 PHD-type zinc fingers. {ECO:0000255|PROSITE-ProRule:PRU00146}.
Subcellular LocationNucleus {ECO:0000305}.
SubunitComponent of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with histone H3. {ECO:0000269|PubMed:17021013, ECO:0000269|PubMed:17500065}.
Tissue SpecificityHighly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver.
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